Advanced diagnostics of rare hereditary disorders of the red blood cell
Anemia is the main clinical consequence of disorders of the red blood cell. Such disorders can affect either red cell production (erythropoietic defects) or be intrinsic to the red cell leading to premature clearance and, hence, decreased cellular survival (hemolysis). Many red blood cell diseases are hereditary in nature, and although in most cases the exact prevalence is unknown they are considered to be rare or even (very) rare. This complicates and often delays correct diagnosis.
The Central Diagnostic Laboratory of University Medical Center Utrecht is a National and International Centre of Expertise in the field of rare hereditary disorders of the red blood cell. We offer an extensive and state-of-the art repertoire of biochemical and genetic tests for the diagnosis of hereditary hemolytic anemia caused by disorders affecting red cell metabolism (enzymopathies), its membrane (membranopathies) or hydration status (channelopathies). In addition we offer Next Generation Sequencing-based gene panels for the diagnosis of hereditary hemolytic anemia (46 genes), and congenital primary and secondary erythrocytosis (15 genes).
CDL is an established member of EuroBloodNet, the European Reference Network for Rare Hematological Diseases.